Incidental Mutation 'IGL00817:Homez'
| ID |
11316 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Homez
|
| Ensembl Gene |
ENSMUSG00000057156 |
| Gene Name |
homeodomain leucine zipper-encoding gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00817
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55090193-55108418 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 55094575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 27
(R27*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081162]
[ENSMUST00000142283]
[ENSMUST00000146642]
[ENSMUST00000176259]
[ENSMUST00000218311]
[ENSMUST00000219350]
[ENSMUST00000220208]
[ENSMUST00000220403]
[ENSMUST00000219519]
[ENSMUST00000220122]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000081162
AA Change: R378*
|
| SMART Domains |
Protein: ENSMUSP00000079929
Gene: ENSMUSG00000057156
AA Change: R378*
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
37 |
93 |
1.7e-1 |
SMART |
|
low complexity region
|
244 |
261 |
N/A |
INTRINSIC |
|
HOX
|
327 |
388 |
2.24e-6 |
SMART |
|
Pfam:Homez
|
421 |
477 |
3.6e-25 |
PFAM |
|
low complexity region
|
481 |
513 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142283
AA Change: R378*
|
| SMART Domains |
Protein: ENSMUSP00000117828
Gene: ENSMUSG00000057156
AA Change: R378*
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
37 |
93 |
1.7e-1 |
SMART |
|
low complexity region
|
244 |
261 |
N/A |
INTRINSIC |
|
HOX
|
327 |
388 |
2.24e-6 |
SMART |
|
Pfam:Homez
|
421 |
477 |
7.3e-31 |
PFAM |
|
low complexity region
|
481 |
513 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146642
|
| SMART Domains |
Protein: ENSMUSP00000114619
Gene: ENSMUSG00000057156
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
37 |
93 |
1.7e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176259
AA Change: R27*
|
| SMART Domains |
Protein: ENSMUSP00000135648
Gene: ENSMUSG00000057156
AA Change: R27*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HOX
|
1 |
37 |
7e-20 |
BLAST |
|
PDB:2ECC|A
|
1 |
42 |
1e-24 |
PDB |
|
Pfam:Homez
|
70 |
126 |
3.4e-26 |
PFAM |
|
low complexity region
|
130 |
145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218311
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219350
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219496
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220208
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220403
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219519
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220122
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abracl |
A |
T |
10: 17,887,379 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
T |
C |
3: 97,112,460 (GRCm39) |
M1332V |
probably damaging |
Het |
| Cebpz |
T |
C |
17: 79,242,259 (GRCm39) |
Y465C |
probably damaging |
Het |
| Dock9 |
G |
T |
14: 121,935,703 (GRCm39) |
T8K |
probably damaging |
Het |
| Emcn |
A |
G |
3: 137,085,638 (GRCm39) |
T79A |
probably benign |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Ifnlr1 |
A |
G |
4: 135,431,596 (GRCm39) |
T262A |
probably benign |
Het |
| Kif1c |
A |
G |
11: 70,596,079 (GRCm39) |
D231G |
probably benign |
Het |
| Lipe |
T |
C |
7: 25,087,874 (GRCm39) |
D62G |
probably damaging |
Het |
| Mtss1 |
G |
A |
15: 58,815,481 (GRCm39) |
|
probably null |
Het |
| Myo1e |
A |
G |
9: 70,249,430 (GRCm39) |
K510R |
probably benign |
Het |
| Neb |
T |
C |
2: 52,133,207 (GRCm39) |
K3444E |
probably damaging |
Het |
| Pcdha12 |
C |
A |
18: 37,154,986 (GRCm39) |
H568Q |
probably benign |
Het |
| Pck1 |
T |
C |
2: 172,995,225 (GRCm39) |
V15A |
possibly damaging |
Het |
| Polr2h |
T |
C |
16: 20,540,655 (GRCm39) |
|
probably benign |
Het |
| Psmb8 |
G |
A |
17: 34,419,703 (GRCm39) |
V186I |
probably damaging |
Het |
| Psme4 |
T |
C |
11: 30,770,129 (GRCm39) |
Y750H |
probably benign |
Het |
| Rps11 |
C |
T |
7: 44,772,925 (GRCm39) |
R22Q |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Trim67 |
T |
C |
8: 125,541,799 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,225,013 (GRCm39) |
D540E |
probably benign |
Het |
| Wdr4 |
A |
G |
17: 31,720,232 (GRCm39) |
L240P |
possibly damaging |
Het |
|
| Other mutations in Homez |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01780:Homez
|
APN |
14 |
55,095,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01951:Homez
|
APN |
14 |
55,095,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02466:Homez
|
APN |
14 |
55,095,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1528:Homez
|
UTSW |
14 |
55,095,162 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1702:Homez
|
UTSW |
14 |
55,094,452 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1804:Homez
|
UTSW |
14 |
55,094,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2422:Homez
|
UTSW |
14 |
55,095,031 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3121:Homez
|
UTSW |
14 |
55,094,778 (GRCm39) |
missense |
probably benign |
|
|
R4589:Homez
|
UTSW |
14 |
55,094,487 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4927:Homez
|
UTSW |
14 |
55,095,264 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5240:Homez
|
UTSW |
14 |
55,095,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5958:Homez
|
UTSW |
14 |
55,094,298 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7080:Homez
|
UTSW |
14 |
55,095,112 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7256:Homez
|
UTSW |
14 |
55,094,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7815:Homez
|
UTSW |
14 |
55,095,675 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8017:Homez
|
UTSW |
14 |
55,095,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8019:Homez
|
UTSW |
14 |
55,095,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
T0975:Homez
|
UTSW |
14 |
55,094,796 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2012-12-06 |
Incidental Mutation